Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. [electronic resource]
Producer: 20040630Description: 22624-34 p. digitalISSN:- 0021-9258
- Adolescent
- Adult
- Amino Acid Sequence
- Animals
- Binding Sites
- Cell Nucleus -- metabolism
- Child
- Child, Preschool
- Codon
- Codon, Nonsense
- DNA -- chemistry
- DNA-Binding Proteins -- genetics
- Deafness -- genetics
- Exons
- Family Health
- Female
- Frameshift Mutation
- GATA3 Transcription Factor
- Gene Deletion
- Genes, Dominant
- Glutathione Transferase -- metabolism
- Green Fluorescent Proteins
- Humans
- Hypoparathyroidism -- genetics
- Kidney Diseases -- pathology
- Luminescent Proteins -- metabolism
- Male
- Mice
- Middle Aged
- Models, Genetic
- Molecular Sequence Data
- Mutation
- Mutation, Missense
- Pedigree
- Protein Binding
- Protein Conformation
- Protein Structure, Tertiary
- RNA Splicing
- RNA, Messenger -- metabolism
- Recombinant Fusion Proteins -- metabolism
- Software
- Structure-Activity Relationship
- Trans-Activators -- genetics
- Two-Hybrid System Techniques
- Zinc -- chemistry
- Zinc Fingers
No physical items for this record
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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